尿素循环障碍急性期表现和管理  

Acute presentation and management of urea cycle disorders

作　　者：孙承凯 邱文娟[1] SUN Cheng-kai;QIU Wen-juan(Department of Pediatric Endocrinology and Genetic Metabolism,Shanghai Institute for Pediatric Research,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China)

机构地区：[1]上海交通大学医学院附属新华医院、上海市儿科医学研究所儿内分泌遗传代谢科,上海200092

出　　处：《中国实用儿科杂志》2024年第11期862-867,共6页Chinese Journal of Practical Pediatrics

基　　金：国家重点研发计划项目(2022YFC2703400);上海市卫健委面上项目(202340103,202140103);上海交通大学医学院儿科学院先天性肾上腺皮质功能不全临床研究中心项目(ELYZX202106);上海交通大学医学院附属新华医院临床研究创新项目(23XHCR12B)。

摘　　要：尿素循环障碍急性期以高氨血症发作为主要特征,具有高致残、高病死率风险。应尽早识别和诊断尿素循环障碍急性期患儿,快速控制急性期发作对提高尿素循环障碍患儿生存率和改善疾病预后具有重要意义。The acute presentation of urea cycle disorders is characterized by hyperammonemia,with high disability and mortality risks.Patients with urea cycle disorders at acute stage should be identified and diagnosed as early as possible,and the quick control ofthe acute attack would make a great significance in improving the survival and prognosis of the patients with urea cycle disorders.

关 键 词：尿素循环障碍 急性高氨血症 诊断 治疗 

分 类 号：R72[医药卫生—儿科]